Zhang H - Search Results

1

A Retrospective Analysis of 10-Year Data Assessed the Diagnostic Accuracy and Efficacy of Cytogenomic Abnormalities in Current Prenatal and Pediatric Settings.

Chai H, DiAdamo A, Grommisch B, Xu F, Zhou Q, Wen J, Mahoney M, Bale A, McGrath J, Spencer-Manzon M, Li P, Zhang H. Chai H, et al. Among authors: zhang h. Front Genet. 2019 Nov 20;10:1162. doi: 10.3389/fgene.2019.01162. eCollection 2019. Front Genet. 2019. PMID: 31850057 Free PMC article.

2

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6.

Zhang HZ, Li P, Wang D, Huff S, Nimmakayalu M, Qumsiyeh M, Pober BR. Zhang HZ, et al. Am J Med Genet A. 2004 Jan 30;124A(3):280-7. doi: 10.1002/ajmg.a.20413. Am J Med Genet A. 2004. PMID: 14708101 Review.

3

Karyotype-phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement.

Li P, Zhang HZ, Huff S, Nimmakayalu M, Qumsiyeh M, Yu J, Szekely A, Xu T, Pober BR. Li P, et al. Am J Med Genet A. 2006 Dec 15;140(24):2721-9. doi: 10.1002/ajmg.a.31498. Am J Med Genet A. 2006. PMID: 17103440

4

Unique genomic structure and distinct mitotic behavior of ring chromosome 21 in two unrelated cases.

Zhang HZ, Xu F, Seashore M, Li P. Zhang HZ, et al. Cytogenet Genome Res. 2012;136(3):180-7. doi: 10.1159/000336978. Epub 2012 Mar 7. Cytogenet Genome Res. 2012. PMID: 22398511

5

Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.

Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. Wu W, et al. Eur J Med Genet. 2017 Jul;60(7):369-373. doi: 10.1016/j.ejmg.2017.04.008. Epub 2017 Apr 15. Eur J Med Genet. 2017. PMID: 28419882

6

Amabile S, Jeffries L, McGrath JM, Ji W, Spencer-Manzon M, Zhang H, Lakhani SA. Amabile S, et al. Among authors: zhang h. Am J Med Genet A. 2020 Sep;182(9):2049-2057. doi: 10.1002/ajmg.a.61729. Epub 2020 Jul 13. Am J Med Genet A. 2020. PMID: 32656949

7

Exome sequencing analysis on products of conception: a cohort study to evaluate clinical utility and genetic etiology for pregnancy loss.

Zhao C, Chai H, Zhou Q, Wen J, Reddy UM, Kastury R, Jiang Y, Mak W, Bale AE, Zhang H, Li P. Zhao C, et al. Among authors: zhang h. Genet Med. 2021 Mar;23(3):435-442. doi: 10.1038/s41436-020-01008-6. Epub 2020 Oct 26. Genet Med. 2021. PMID: 33100332 Free article.

8

[A review of consensus statements, practice resources, standards and guidelines for clinical applications of next-generation sequencing technologies in the United States].

Zhao C, Xie X, Ji W, Qi M, Zhou Q, Li M, Li P, Jiang Y, Zhang H. Zhao C, et al. Among authors: zhang h. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021 Jun 10;38(6):513-520. doi: 10.3760/cma.j.cn511374-20200924-00691. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2021. PMID: 34096016 Review. Chinese.

9

D-bifunctional protein deficiency caused by splicing variants in a neonate with severe peroxisomal dysfunction and persistent hypoglycemia.

Werner KM, Cox AJ, Qian E, Jain P, Ji W, Tikhonova I, Castaldi C, Bilguvar K, Knight J, Ferdinandusse S, Fawaz R, Jiang YH, Gallagher PG, Bizzarro M, Gruen JR, Bale A, Zhang H. Werner KM, et al. Among authors: zhang h. Am J Med Genet A. 2022 Jan;188(1):357-363. doi: 10.1002/ajmg.a.62520. Epub 2021 Oct 8. Am J Med Genet A. 2022. PMID: 34623748 Free PMC article.

10

Detecting regions of homozygosity improves the diagnosis of pathogenic variants and uniparental disomy in pediatric patients.

Wen J, Chai H, Grommisch B, DiAdamo A, Dykas D, Ma D, Popa A, Zhao C, Spencer-Manzon M, Jiang YH, McGrath J, Li P, Bale A, Zhang H. Wen J, et al. Among authors: zhang h. Am J Med Genet A. 2022 Jun;188(6):1728-1738. doi: 10.1002/ajmg.a.62693. Epub 2022 Feb 23. Am J Med Genet A. 2022. PMID: 35199448

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